Browsing 7 Mathematisch-Naturwissenschaftliche Fakultät by Author "Park, Joohyun"

DSpace Repository

Browsing 7 Mathematisch-Naturwissenschaftliche Fakultät by Author "Park, Joohyun"

Sort by: Order: Results:

  • A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
    Figueroa, Karla P.; Gross, Caspar; Buena-Atienza, Elena; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc; Casadei, Nicolas; Admard, Jakob; Park, Joohyun; Zuehlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya; Haendler, Kristian; Zittel, Simone; Timmann, Dagmar; Erdlenbruch, Friedrich; Herrmann, Laura; Feindt, Thomas; Zenker, Martin; Klopstock, Thomas; Dufke, Claudia; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Pulst, Stefan M. (2024)
  • Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
  • HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
    Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M. (2023)
  • Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
    Park, Joohyun; Sturm, Marc; Seibel-Kelemen, Olga; Ossowski, Stephan; Haack, Tobias B.; Witsch-Baumgartner, Martina; Muehlegger, Beatrix (2024)